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Spectrum of SPTLC1-related disorders: a novel case of 'Ser331 syndrome' that expand the phenotype of hereditary sensory and autonomic neuropathy type 1A and motor neuron diseases.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 7, p. 2551, doi. 10.1007/s10072-023-06763-3
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- Publication type:
- Article
Charcot-Marie-Tooth disease type 4C associated with myasthenia gravis: coincidental or a foreseeable association?
- Published in:
- Neurological Sciences, 2022, v. 43, n. 1, p. 705, doi. 10.1007/s10072-021-05591-7
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- Publication type:
- Article
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 1, p. 281, doi. 10.1093/brain/awad315
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- Publication type:
- Article
Usefulness of the skin-wrinkling test in a patient with probable small fiber neuropathy and Gaucher disease.
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- Egyptian Journal of Neurology, Psychiatry & Neurosurgery, 2023, v. 59, p. 1, doi. 10.1186/s41983-023-00743-2
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- Publication type:
- Article
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1594, doi. 10.1002/ajmg.a.38707
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- Publication type:
- Article
Management of Stable Angina with Ivabradine as Safe Alternative to Patients with Myasthenia Gravis.
- Published in:
- 2016
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- Publication type:
- Case Study
Predictors of early left ventricular systolic dysfunction in duchenne muscular dystrophy patients.
- Published in:
- 2018
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- Publication type:
- journal article
Necrotizing myopathy: An uncommon initial manifestation of human immunodeficiency virus.
- Published in:
- 2016
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- Publication type:
- journal article
Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation.
- Published in:
- Muscle & Nerve, 2013, v. 48, n. 1, p. 151, doi. 10.1002/mus.23724
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- Publication type:
- Article
Somatosensory evoked potentials in Hirayama disease: A Brazilian study.
- Published in:
- Surgical Neurology International, 2020, v. 12, p. 1, doi. 10.25259/SNI_861_2020
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- Publication type:
- Article
How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features.
- Published in:
- NeuroMolecular Medicine, 2018, v. 20, n. 2, p. 205, doi. 10.1007/s12017-018-8490-1
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- Publication type:
- Article
Clinical and molecular characterization of limb‐girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patients.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 5, p. 644, doi. 10.1111/cge.14589
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- Publication type:
- Article
Genetic screening for transthyretin familial amyloid polyneuropathy to avoid misdiagnosis in patients with polyneuropathy associated with high protein in the cerebrospinal fluid.
- Published in:
- 2023
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- Publication type:
- Letter
Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease.
- Published in:
- Acta Neurologica Belgica, 2020, v. 120, n. 2, p. 303, doi. 10.1007/s13760-018-1038-1
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- Publication type:
- Article
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
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- American Journal of Case Reports, 2017, v. 18, p. 17, doi. 10.12659/AJCR.900970
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- Publication type:
- Article
Gamma knife surgery for idiopathic trigeminal neuralgia performed using a far-anterior cisternal target and a high dose of radiation.
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- Journal of Neurosurgery, 2011, p. 58
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- Publication type:
- Article
Gamma knife surgery for idiopathic trigeminal neuralgia performed using a far-anterior cisternal target and a high dose of radiation.
- Published in:
- Journal of Neurosurgery, 2004, v. 100, n. 4, p. 597, doi. 10.3171/jns.2004.100.4.0597
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- Publication type:
- Article
Visual Evoked Potentials in Neuromyelitis Optica Spectrum Disorders.
- Published in:
- Journal of Central Nervous System Disease, 2021, p. 1, doi. 10.1177/11795735211057315
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- Publication type:
- Article
Hereditary neuropathy with liability to pressure palsies: a single-center experience in southern Brazil.
- Published in:
- Neurology International, 2016, v. 8, n. 3, p. 54, doi. 10.4081/ni.2016.6677
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- Publication type:
- Article
Use of Stereotactic PET Images in Dosimetry Planning of Radiosurgery for Brain Tumors: Clinical Experience and Proposed Classification.
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- Journal of Nuclear Medicine, 2004, v. 45, n. 7, p. 1146
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- Publication type:
- Article